Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes

Olfa Fersi Alila, Emna Mkaouar Rebai, Mouna Tabebi, Amel Tej, Imen Chamkha, Abdelaziz Tlili, Jihene Bouguila, Samia Tilouche, Nejla Soyah, Lamia Boughamoura, Faiza Fakhfakh

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review

Sammanfattning

Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. These mutations were described in the mt-tRNA genes and in the mitochondrial protein-coding genes. The aim of this study was to identify the genetic defect in two patients belonging to two families with cardiac dysfunction associated to a wide spectrum of clinical phenotypes. The sequencing analysis of the whole mitochondrial DNA in the two patients and their parents revealed the presence of known polymorphisms associated to cardiomyopathy and two pathogenic mutations in DNA extracted from blood leucocytes: the heteroplasmic m.3243A > G mutation in the MT-TL1 gene in patient A; and the homoplasmic m.5182C > T mutation in the ND2 gene in patient B. Secondary structure analysis of the ND2 protein further supported the deleterious role of the m.5182C > T mutation, as it was found to be involved an extended imbalance in its hydrophobicity and affect its function. In addition, the mitochondrial variants identified in patients A and B classify both of them in the same haplogroup H2a2a1.

Originalspråkengelska
Sidor (från-till)2873-80
Antal sidor8
TidskriftMitochondrial DNA, Part A: DNA mapping, sequencing, and analysis
Volym27
Nummer4
DOI
StatusPublished - 2016 juli
Externt publiceradJa

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